Canonical Allele Identifier: CA2640810673

Gene: SMCHD1

Linked Data

• gnomAD v4: 18-2697920-A-AGCTGATAGTTTTGAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2697921_2697936dup , CM000680.2:g.2697921_2697936dup	GRCh38
NC_000018.9:g.2697919_2697934dup , CM000680.1:g.2697919_2697934dup	GRCh37
NC_000018.8:g.2687919_2687934dup	NCBI36
NG_031972.1:g.47034_47049dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684915.1:n.1379_1394dup
ENST00000688342.1:c.1222_1237dup	ENSP00000508422.1:p.Phe413CysfsTer2
ENST00000693213.1:n.500_515dup
ENST00000320876.11:c.1222_1237dup MANE Select	ENSP00000326603.7:p.Phe413CysfsTer2
ENST00000320876.10:c.1222_1237dup	ENSP00000326603.6:p.Phe413CysfsTer2
NM_015295.2:c.1222_1237dup	NP_056110.2:p.Phe413CysfsTer2
XM_011525642.1:c.1222_1237dup	XP_011523944.1:p.Phe413CysfsTer2
XM_011525643.1:c.1222_1237dup	XP_011523945.1:p.Phe413CysfsTer2
XM_011525644.1:c.838_853dup	XP_011523946.1:p.Phe285CysfsTer2
XM_011525645.1:c.658_673dup	XP_011523947.1:p.Phe225CysfsTer2
XM_011525646.1:c.1222_1237dup	XP_011523948.1:p.Phe413CysfsTer2
XM_011525647.1:c.1222_1237dup	XP_011523949.1:p.Phe413CysfsTer2
XR_430039.1:n.1411_1426dup
XR_935054.1:n.1411_1426dup
XR_935055.1:n.1411_1426dup
XM_011525643.2:c.1222_1237dup	XP_011523945.1:p.Phe413CysfsTer2
XM_017025684.1:c.658_673dup	XP_016881173.1:p.Phe225CysfsTer2
XR_001753172.1:n.1411_1426dup
XR_001753173.1:n.1411_1426dup
XR_001753174.1:n.1411_1426dup
XR_001753175.1:n.1411_1426dup
XR_001753176.1:n.1411_1426dup
XR_001753177.1:n.1411_1426dup
XR_001753178.1:n.1411_1426dup
XR_001753179.1:n.1411_1426dup
XR_935055.2:n.1411_1426dup
NM_015295.3:c.1222_1237dup MANE Select	NP_056110.2:p.Phe413CysfsTer2